A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17677



Internal ID15830258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:113719785..113726074hg38UCSC Ensembl
Outerchr8:113718690..113726594hg38UCSC Ensembl
Innerchr8:114732014..114738303hg19UCSC Ensembl
Outerchr8:114730919..114738823hg19UCSC Ensembl
Innerchr8:114801190..114807479hg18UCSC Ensembl
Outerchr8:114800095..114807999hg18UCSC Ensembl
Innerchr8:114801190..114807479hg17UCSC Ensembl
Outerchr8:114800095..114807999hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg387905
hg197905
hg187905
hg177905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8372
Supporting Variants
SamplesNA11830
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv17677
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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